Canonical Allele Identifier: CA5126516
Gene: BICD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1365086
ClinVar RCV Id: RCV001907830
dbSNP Id: rs759941912
ExAC: 9:95481252 C / T
gnomAD v2: 9-95481252-C-T
gnomAD v3: 9-92718970-C-T
gnomAD v4: 9-92718970-C-T
MyVariant Identifiers: chr9:g.95481252C>T (hg19) chr9:g.92718970C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718970C>T , CM000671.2:g.92718970C>T GRCh38
NC_000009.11:g.95481252C>T , CM000671.1:g.95481252C>T GRCh37
NC_000009.10:g.94521073C>T NCBI36
NG_033908.1:g.50832G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1675G>A MANE Select ENSP00000349351.6:p.Glu559Lys
ENST00000356884.10:c.1675G>A ENSP00000349351.6:p.Glu559Lys
ENST00000375512.3:c.1675G>A ENSP00000364662.3:p.Glu559Lys
NM_001003800.1:c.1675G>A NP_001003800.1:p.Glu559Lys
NM_015250.3:c.1675G>A NP_056065.1:p.Glu559Lys
XM_017014551.1:c.1756G>A XP_016870040.1:p.Glu586Lys
NM_001003800.2:c.1675G>A MANE Select NP_001003800.1:p.Glu559Lys
NM_015250.4:c.1675G>A NP_056065.1:p.Glu559Lys
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